Phenotypes for disease #01624 (ACADMD (medium-chain acyl-coenzyme A dehydrogenase deficiency (ACADMD)), OMIM:201450)

19 entries on 1 page. Showing entries 1 - 19.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000143312 - - - Familial, autosomal recessive - - - - - Belen Perez 00181059
0000143314 - - - Familial, autosomal recessive - - - - - Belen Perez 00181061
0000143315 - - - Familial, autosomal recessive - - - - - Belen Perez 00181062
0000143392 - - - Familial, autosomal recessive - - - - - Belen Perez 00181009
0000143393 - - - Familial, autosomal recessive - - - - - Belen Perez 00181010
0000235160 see paper; ... MCAD deficiency (AR) ACADMD Familial, autosomal recessive - - - - - Johan den Dunnen 00309845
0000235165 see paper; ... MCAD deficiency (AR) ACADMD Familial, autosomal recessive - - - - - Johan den Dunnen 00309850
0000235167 see paper; ... MCAD deficiency (AR) ACADMD Familial, autosomal recessive - - - - - Johan den Dunnen 00309852
0000235171 see paper; ... MCAD deficiency ACADMD Familial, autosomal recessive - - - - - Johan den Dunnen 00309856
0000235172 see paper; ... MCAD deficiency ACADMD Familial, autosomal recessive - - - - - Johan den Dunnen 00309857
0000235175 see paper; ... MCAD deficiency ACADMD Familial, autosomal recessive - - - - - Johan den Dunnen 00309860
0000235176 see paper; ... MCAD deficiency ACADMD Familial, autosomal recessive - - - - - Johan den Dunnen 00309861
0000253702 convulsion coma - - Familial, autosomal recessive - 02y03m - - - Wenjuan Qiu 00335784
0000253703 diarrhea vomiting convulsion - - Familial, autosomal recessive - - - - - Wenjuan Qiu 00335785
0000253704 lethargy, hypoglycemia - - Familial, autosomal recessive - 00y34m - - - Wenjuan Qiu 00335786
0000253705 Vomiting diarrhea convulsion - - Familial, autosomal recessive - 00y15m - - - Wenjuan Qiu 00335787
0000253706 fever, lethargy hypoglycemia - - Familial - - - - - Wenjuan Qiu 00335789
0000253707 - - - Familial, autosomal recessive - - - - - Wenjuan Qiu 00335790
0000253708 - - - Familial - - - - - Wenjuan Qiu 00335791
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